V44L (p.Val44Leu) variant of ATP6V1B1 (P15313)
V44L (p.Val44Leu) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- rs781931952
- ClinGen CA1700910
- ClinVar RCV001864197
- ExAC rs781931952
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.63
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available